EP3479271A4 - Synthetic wgs bioinformatics validation - Google Patents

Synthetic wgs bioinformatics validation Download PDF

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Publication number
EP3479271A4
EP3479271A4 EP17821417.7A EP17821417A EP3479271A4 EP 3479271 A4 EP3479271 A4 EP 3479271A4 EP 17821417 A EP17821417 A EP 17821417A EP 3479271 A4 EP3479271 A4 EP 3479271A4
Authority
EP
European Patent Office
Prior art keywords
wgs
bioinformatics
validation
synthetic
wgs bioinformatics
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Withdrawn
Application number
EP17821417.7A
Other languages
German (de)
French (fr)
Other versions
EP3479271A1 (en
Inventor
Charles VASKE
Rahul PARULKAR
John Zachary Sanborn
Stephen BENZ
Mark Johnson
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Nantomics LLC
Original Assignee
Nantomics LLC
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Nantomics LLC filed Critical Nantomics LLC
Publication of EP3479271A1 publication Critical patent/EP3479271A1/en
Publication of EP3479271A4 publication Critical patent/EP3479271A4/en
Withdrawn legal-status Critical Current

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Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F16/00—Information retrieval; Database structures therefor; File system structures therefor
    • G06F16/90—Details of database functions independent of the retrieved data types
    • G06F16/901—Indexing; Data structures therefor; Storage structures
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/50—Mutagenesis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
    • G16B35/10—Design of libraries
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16C—COMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE
    • G16C20/00—Chemoinformatics, i.e. ICT specially adapted for the handling of physicochemical or structural data of chemical particles, elements, compounds or mixtures
    • G16C20/60—In silico combinatorial chemistry
EP17821417.7A 2016-06-30 2017-06-30 Synthetic wgs bioinformatics validation Withdrawn EP3479271A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662357282P 2016-06-30 2016-06-30
PCT/US2017/040455 WO2018006057A1 (en) 2016-06-30 2017-06-30 Synthetic wgs bioinformatics validation

Publications (2)

Publication Number Publication Date
EP3479271A1 EP3479271A1 (en) 2019-05-08
EP3479271A4 true EP3479271A4 (en) 2020-04-08

Family

ID=60787685

Family Applications (1)

Application Number Title Priority Date Filing Date
EP17821417.7A Withdrawn EP3479271A4 (en) 2016-06-30 2017-06-30 Synthetic wgs bioinformatics validation

Country Status (10)

Country Link
US (1) US10984890B2 (en)
EP (1) EP3479271A4 (en)
JP (1) JP2019525308A (en)
KR (1) KR20190039693A (en)
CN (1) CN109791796A (en)
AU (1) AU2017290840A1 (en)
CA (1) CA3029029A1 (en)
IL (1) IL264022A (en)
SG (1) SG11201811286SA (en)
WO (1) WO2018006057A1 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3479271A4 (en) 2016-06-30 2020-04-08 Nantomics, LLC Synthetic wgs bioinformatics validation
CN113053460A (en) * 2019-12-27 2021-06-29 分子健康有限责任公司 Systems and methods for genomic and genetic analysis

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016062713A1 (en) * 2014-10-21 2016-04-28 Barcelona Supercomputing Center - Centro Nacional De Supercomputación A computational method for the identification of variants in nucleic acid sequences

Family Cites Families (14)

* Cited by examiner, † Cited by third party
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JP2006277611A (en) 2005-03-30 2006-10-12 Nec Corp Multiple sample gene expression data analysis system, method, program and recording medium
US10192641B2 (en) 2010-04-29 2019-01-29 The Regents Of The University Of California Method of generating a dynamic pathway map
JP6073217B2 (en) 2010-04-29 2017-02-08 ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニア Pathway recognition algorithm (PARADIGM) using data integration for genome models
US9652587B2 (en) 2010-05-25 2017-05-16 The Regents Of The University Of California Bambam: parallel comparative analysis of high-throughput sequencing data
US9646134B2 (en) 2010-05-25 2017-05-09 The Regents Of The University Of California Bambam: parallel comparative analysis of high-throughput sequencing data
JP2013545439A (en) 2010-09-17 2013-12-26 プレジデント・アンド・フェロウズ・オブ・ハーバード・カレッジ Functional genomics assay to characterize the usefulness and safety of pluripotent stem cells
US8725422B2 (en) * 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
US9262719B2 (en) 2011-03-22 2016-02-16 Patrick Soon-Shiong Reasoning engines
US20130080365A1 (en) * 2011-04-13 2013-03-28 The Board Of Trustees Of The Leland Stanford Junior University Phased Whole Genome Genetic Risk In A Family Quartet
US9092401B2 (en) 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
US10847248B2 (en) 2012-08-10 2020-11-24 The Board Of Trustees Of The Leland Stanford Junior University Techniques for determining haplotype by population genotype and sequence data
US20160034638A1 (en) 2013-03-14 2016-02-04 University Of Rochester System and Method for Detecting Population Variation from Nucleic Acid Sequencing Data
US10385394B2 (en) * 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
EP3479271A4 (en) 2016-06-30 2020-04-08 Nantomics, LLC Synthetic wgs bioinformatics validation

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016062713A1 (en) * 2014-10-21 2016-04-28 Barcelona Supercomputing Center - Centro Nacional De Supercomputación A computational method for the identification of variants in nucleic acid sequences

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
COTTRELL CATHERINE E ET AL: "Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology", JOURNAL OF MOLECULAR DIAGNOSTICS,, vol. 16, no. 1, 1 January 2014 (2014-01-01), pages 89 - 105, XP002765677, DOI: 10.1016/J.JMOLDX.2013.10.002 *
See also references of WO2018006057A1 *

Also Published As

Publication number Publication date
US20180004893A1 (en) 2018-01-04
CA3029029A1 (en) 2018-01-04
SG11201811286SA (en) 2019-01-30
WO2018006057A1 (en) 2018-01-04
KR20190039693A (en) 2019-04-15
AU2017290840A1 (en) 2019-01-24
IL264022A (en) 2019-03-31
CN109791796A (en) 2019-05-21
JP2019525308A (en) 2019-09-05
EP3479271A1 (en) 2019-05-08
US10984890B2 (en) 2021-04-20

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